Andrea K Petersen
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Explore the profile of Andrea K Petersen including associated specialties, affiliations and a list of published articles.
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10
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379
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Recent Articles
1.
Cif L, Cif L, Demailly D, Demailly D, Lin J, Lin J, et al.
ArXiv
. 2025 Feb;
PMID: 39990802
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial...
2.
Karayol R, Borroto M, Haghshenas S, Namasivayam A, Reilly J, Levy M, et al.
Am J Hum Genet
. 2024 May;
111(7):1330-1351.
PMID: 38815585
Epigenetic dysregulation has emerged as an important etiological mechanism of neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can impair deposition of histone post-translational modifications leading to aberrant spatiotemporal gene...
3.
Li D, Wang Q, Bayat A, Battig M, Zhou Y, Bosch D, et al.
J Clin Invest
. 2023 Nov;
134(1).
PMID: 37962958
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic...
4.
Fertitta L, Bergqvist C, Sarin K, Plotkin S, Moertel C, Petersen A, et al.
Br J Dermatol
. 2023 Oct;
190(2):216-225.
PMID: 37877514
Background: Cutaneous neurofibromas (cNF) are considered one of the highest burdens of neurofibromatosis type 1 (NF1). To date, no medical treatment can cure cNF or prevent their development. In that...
5.
Cannon A, Sarin K, Petersen A, Pichard D, Wolters P, Erickson G, et al.
Clin Trials
. 2023 Jun;
21(1):67-72.
PMID: 37269078
Background/aims: More than 99% of individuals with neurofibromatosis 1 develop cutaneous neurofibromas, benign nerve sheath tumors that manifest as nodules on the skin. These cutaneous neurofibromas emerge with age, appearing...
6.
Vitobello A, Mazel B, Lelianova V, Zangrandi A, Petitto E, Suckling J, et al.
Am J Hum Genet
. 2022 Jul;
109(8):1436-1457.
PMID: 35907405
ADGRL1 (latrophilin 1), a well-characterized adhesion G protein-coupled receptor, has been implicated in synaptic development, maturation, and activity. However, the role of ADGRL1 in human disease has been elusive. Here,...
7.
Cordovado A, Schaettin M, Jeanne M, Panasenkava V, Denomme-Pichon A, Keren B, et al.
Hum Mol Genet
. 2022 May;
31(19):3325-3340.
PMID: 35604360
Intellectual disability (ID) is a neurodevelopmental disorder frequently caused by monogenic defects. In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for ID to different...
8.
den Hoed J, de Boer E, Voisin N, Dingemans A, Guex N, Wiel L, et al.
Am J Hum Genet
. 2021 Jan;
108(2):346-356.
PMID: 33513338
Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different...
9.
Cif L, Demailly D, Lin J, Barwick K, Sa M, Abela L, et al.
Brain
. 2020 Nov;
143(11):3242-3261.
PMID: 33150406
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a...
10.
Petersen A, Cheung S, Smith J, Bi W, Ward P, Peacock S, et al.
Am J Obstet Gynecol
. 2017 Oct;
217(6):691.e1-691.e6.
PMID: 29032050
Background: Since its debut in 2011, cell-free fetal DNA screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility...